What happens to children who move off the autism spectrum? Clinical follow-up study.

Background: There is controversial information on outcome of school age individuals who lose the diagnosis of autism and achieve "optimal outcome" (OO). The present study assessed the autism symptoms and other psychiatric disorders in a group of children with a past history of autism.

Methods: The subjects consisted of 26 individuals who had lost the diagnosis of autism 2-8 years previously.

Mutations in Human Accelerated Regions Disrupt Cognition and Social Behavior.

Comparative analyses have identified genomic regions potentially involved in human evolution but do not directly assess function. Human accelerated regions (HARs) represent conserved genomic loci with elevated divergence in humans. If some HARs regulate human-specific social and behavioral traits, then mutations would likely impact cognitive and social disorders.

Effects of Atomoxetine in Individuals with Attention-Deficit/Hyperactivity Disorder and Low-Functioning Autism Spectrum Disorder.

Objectives: This naturalistic, retrospective study investigated the effects of atomoxetine (ATX) on attention-deficit/hyperactivity disorder (ADHD) symptoms and autistic features in children with autism spectrum disorders (ASDs) and intellectual disability (ID).

Methods: Participants (n = 37, age range 6-17 years, mean: 10.16 ± 3.

Characteristics of children who lost the diagnosis of autism: a sample from istanbul, Turkey.

Aim. The aim of this study was to describe a group of children who lost a diagnosis of autism following participation in early educational programs. Method.

Using whole-exome sequencing to identify inherited causes of autism.

Despite significant heritability of autism spectrum disorders (ASDs), their extreme genetic heterogeneity has proven challenging for gene discovery. Studies of primarily simplex families have implicated de novo copy number changes and point mutations, but are not optimally designed to identify inherited risk alleles. We apply whole-exome sequencing (WES) to ASD families enriched for inherited causes due to consanguinity and find familial ASD associated with biallelic mutations in disease genes (AMT, PEX7, SYNE1, VPS13B, PAH, and POMGNT1).

Positron emission tomography findings in children with infantile spasms and autism.

The purpose of this study was to evaluate positron emission tomography (PET) findings in patients diagnosed with infantile spasms and autism. This study includes 90 patients who were diagnosed with infantile spasms at the Department of Pediatric Neurology in the Istanbul University Medical Faculty between 1995 and 2007. Of the 90 patients, 15 patients who were diagnosed with autism using the Autism Behaviour Checklist and Childhood Autism Rating Scale and a control group of nine patients without autism but with infantile spasms underwent PET examination.

Using the modified checklist for autism in toddlers in a well-child clinic in Turkey: adapting the screening method based on culture and setting.

We aimed to adapt the Modified Checklist for Autism in Toddlers to Turkish culture. The Modified Checklist for Autism in Toddlers was filled out independently by 191 parents while they were waiting for the well-child examination of their child. A high screen-positive rate was found.

Referral pattern and special interests in children and adolescents with Asperger syndrome: a Turkish referred sample.

Objectives: To investigate the most frequent reasons for referral, the most common special interests, age at first referral to a mental health service, and the age of diagnosis in children and adolescents with Asperger syndrome living in Turkey.

Methods: This study includes 61 children and adolescents diagnosed with Asperger syndrome using strict DSM-IV criteria.

Results: The mean age at first referral was 7.

A novel X-linked disorder with developmental delay and autistic features.

Objective: Genomic duplications that lead to autism and other human diseases are interesting pathological lesions since the underlying mechanism almost certainly involves dosage sensitive genes. We aim to understand a novel genomic disorder with profound phenotypic consequences, most notably global developmental delay, autism, psychosis, and anorexia nervosa.

Methods: We evaluated the affected individuals, all maternally related, using childhood autism rating scale (CARS) and Vineland Adaptive scales, magnetic resonance imaging (MRI) and magnetic resonance spectroscopy (MRS) brain, electroencephalography (EEG), electromyography (EMG), muscle biopsy, high-resolution molecular karyotype arrays, Giemsa banding (G-banding) and fluorescent in situ hybridization (FISH) experiments, mitochondrial DNA (mtDNA) sequencing, X-chromosome inactivation study, global gene expression analysis on Epstein-Barr virus (EBV)-transformed lymphoblasts, and quantitative reverse-transcription polymerase chain reaction (qRT-PCR).

Asperger's disorder and Williams syndrome: a case report.

Williams syndrome (WS) is a genetic disorder caused by the hemizygous microdeletion in chromosome 7q11.23. It is characterized by dysmorphic face, cardiovascular disease, idiopathic hypercalcemia, mental retardation, and an uneven profile of cognitive-linguistic abilities and deficits.

Drug induced mania in a boy with high functioning autism.

Drug induced mania is sometimes associated with drug that are primarily not used for central nervous system effects. Here we report a manic episode during the treatment of leukemia with various agents in an adolescent with diagnosis of high functioning autism. In this case, most likely candidates to induce a manic episode were dexamethazone, a corticosteroid used in the treatment of T-ALL, cyclophosphamide and cotrimoxazole.

Catatonia in a child with autistic disorder.

Catatonia is a cluster of motor features that appears in many recognized psychiatric illnesses. It is being increasingly reported in individuals with autism, a disorder characterized by impaired reciprocal social interactions, aberrant language development and restricted behavioral repertoire. However, relatively little is known about the presentation and treatment of catatonia in children with autism.

Psychiatric disorders in individuals with high-functioning autism and Asperger's disorder: similarities and differences.

Objectives: To investigate and compare the rate and type of psychiatric co-morbidity in individuals with diagnosis of high functioning autism (HFA) and Asperger's disorder (AS).

Methods: This study includes 30 children and adolescents with diagnosis of HFA and 30 with diagnosis of AS. Diagnoses of HFA and AS were made using strict DSM-IV criteria.

Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders.

Research has implicated mutations in the gene for neurexin-1 (NRXN1) in a variety of conditions including autism, schizophrenia, and nicotine dependence. To our knowledge, there have been no published reports describing the breadth of the phenotype associated with mutations in NRXN1. We present a medical record review of subjects with deletions involving exonic sequences of NRXN1.

Co-morbidity of bipolar disorder in children and adolescents with attention deficit/hyperactivity disorder (ADHD) in an outpatient Turkish sample.

This study aimed to assess the prevalence of bipolar disorder (BPD) in children and adolescents with attention deficit hyperactivity disorder (ADHD), and to compare the clinical characteristics of a group with ADHD with a group with co-morbidity of ADHD and BPD. The study includes 121 individuals, aged 6-16 years, with a diagnosis of ADHD. Co-morbidity of BPD was evaluated using the Schedule for Affective Disorders and Schizophrenia for School-age Children-Present and Lifetime version (K-SADS-PL) and the Parent-Young Mania Rating Scale (P-YMRS).

High rates of psychiatric co-morbidity in individuals with Asperger's disorder.

The present study aimed to provide clinical data regarding co-morbidity of psychiatric disorders in individuals diagnosed with Asperger's disorder (AD). This study included 37 individuals (32 male, five female, mean age: 10.9+/-4.

Pervasive developmental disorders in individuals with cerebral palsy.

The aim of the present study was to describe the prevalence and associated factors of pervasive developmental disorders (PDD), including autistic disorder and PDD not otherwise specified (NOS), in a clinical sample of 126 children and adolescents (75 males, 51 females; age range 4-18y, mean 8y 8mo, SD 3y 8mo) with tetraplegic, hemiplegic, diplegic, dyskinetic, or mixed types of cerebral palsy (CP); 28% could not crawl or walk even with support, 29% could move with support, and 43% walked independently. Participants were examined for PDD in two stages. In the first stage, probable participants were determined by direct observation, Autism Behavior Checklist score, and medical reports.

Identifying autism loci and genes by tracing recent shared ancestry.

To find inherited causes of autism-spectrum disorders, we studied families in which parents share ancestors, enhancing the role of inherited factors. We mapped several loci, some containing large, inherited, homozygous deletions that are likely mutations. The largest deletions implicated genes, including PCDH10 (protocadherin 10) and DIA1 (deleted in autism1, or c3orf58), whose level of expression changes in response to neuronal activity, a marker of genes involved in synaptic changes that underlie learning.

Kleine-Levin syndrome in two subjects with diagnosis of autistic disorder.

Kleine-Levin syndrome (KLS) is a rare disease characterized by recurrent episodes of hypersomnia, cognitive and behavioural disturbances, compulsive eating and hypersexuality. The disease is predominantly described in typically developed adolescents. Here, we present two cases with the diagnosis of KLS and autistic disorder.

Mirtazapine treatment in a subject with autistic disorder and fetishism.

The presence of inappropriate sexual behaviors in individuals with autistic disorder is one of the important factors disturbing their social adaptation and distressing their families and environment. Therefore, appropriate management of these behaviors seems necessary. This case report describes a 13-year-old male with diagnosis of autistic disorder and fetishistic behavior.

Risperidone-induced enuresis in two children with autistic disorder.

Introduction: Risperidone appears to be effective in treating behavioral problems in children with autistic disorder. Although increased appetite, weight gain, and sedation are among the most common side effects, risperidone-induced enuresis is rarely reported.

Method: We will present two cases with risperidone-induced enuresis, and discuss our findings in the context of current literature.